Submissions for variant NM_014043.4(CHMP2B):c.312T>C (p.Thr104=)

gnomAD frequency: 0.82371  dbSNP: rs11540913

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000252941	SCV000312019	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000293185	SCV000446338	benign	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics	RCV000084272	SCV000841529	benign	not provided	2017-11-17	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000293185	SCV001728567	benign	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	2025-02-04	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000293185	SCV001806657	benign	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	2021-07-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000084272	SCV001943618	benign	not provided	2018-07-03	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV000084272	SCV005299958	benign	not provided		criteria provided, single submitter	not provided
VIB Department of Molecular Genetics, University of Antwerp	RCV000084272	SCV000116408	not provided	not provided		no assertion provided	not provided
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000252941	SCV001741168	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000252941	SCV001807322	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000252941	SCV001966717	benign	not specified		no assertion criteria provided	clinical testing